From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epitheli...

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Bibliografiset tiedot
Julkaisussa:Mol Biol Cell
Päätekijät: Veit, Gudio, Avramescu, Radu G., Chiang, Annette N., Houck, Scott A., Cai, Zhiwei, Peters, Kathryn W., Hong, Jeong S., Pollard, Harvey B., Guggino, William B., Balch, William E., Skach, William R., Cutting, Garry R., Frizzell, Raymond A., Sheppard, David N., Cyr, Douglas M., Sorscher, Eric J., Brodsky, Jeffrey L., Lukacs, Gergely L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The American Society for Cell Biology 2016
Aiheet:
MBoC Perspective on Cell Biology and Human Health
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4751594/
https://ncbi.nlm.nih.gov/pubmed/26823392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E14-04-0935
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